Branchio-oto-renal syndrome (BOR)

Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR

Dana J. Orten, Stephanie M. Fischer, Jessica L. Sorensen, Uppala Radhakrishna, Cor W.R.J. Cremers, Henri A.M. Marres, Guy Van Camp, Katherine O. Welch, Richard J.H. Smith, William J Kimberling

Research output: Contribution to journalReview article

50 Citations (Scopus)

Abstract

Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and renal anomalies. The phenotype varies from ear pits to profound hearing loss, branchial fistulae, and kidney agenesis. The most common gene mutated in BOR families is EYA1, a transcriptional activator. Over 80 different disease-causing mutations have been published (http://www.healthcare. uiowa.edu/labs/pendredandbor/, last accessed 20 November 2007). We analyzed the EYA1 coding region (16 exons) from 435 families (345 at the University of Iowa [UI] and 95 at Boys Town National Research Hospital [BTNRH], including five at both) and found 70 different EYA1 mutations in 89 families. Most of the mutations (56/70) were private. EYA1 mutations were found in 31% of families (76/248) fitting established clinical criteria for BOR and 7% of families with questionable BOR phenotype (13/187). Severity of the phenotype did not correlate with type of mutation nor with the domain involved. These results add considerably to the spectrum of EYA1 mutations associated with BOR and indicate that the BOR phenotype is an indication for molecular studies to diagnose EYA1-associated BOR.

Original languageEnglish (US)
Pages (from-to)537-544
Number of pages8
JournalHuman mutation
Volume29
Issue number4
DOIs
StatePublished - Apr 1 2008

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Branchio-Oto-Renal Syndrome
Mutation
Genes
Phenotype
Hearing Loss
External Ear
Kidney
Fistula
Exons
Delivery of Health Care

Keywords

  • Branchio-oto-renal syndrome
  • EYA1
  • Genetic heterogeneity
  • Mutation analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Orten, D. J., Fischer, S. M., Sorensen, J. L., Radhakrishna, U., Cremers, C. W. R. J., Marres, H. A. M., ... Kimberling, W. J. (2008). Branchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Human mutation, 29(4), 537-544. https://doi.org/10.1002/humu.20691

Branchio-oto-renal syndrome (BOR) : Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. / Orten, Dana J.; Fischer, Stephanie M.; Sorensen, Jessica L.; Radhakrishna, Uppala; Cremers, Cor W.R.J.; Marres, Henri A.M.; Van Camp, Guy; Welch, Katherine O.; Smith, Richard J.H.; Kimberling, William J.

In: Human mutation, Vol. 29, No. 4, 01.04.2008, p. 537-544.

Research output: Contribution to journalReview article

Orten, DJ, Fischer, SM, Sorensen, JL, Radhakrishna, U, Cremers, CWRJ, Marres, HAM, Van Camp, G, Welch, KO, Smith, RJH & Kimberling, WJ 2008, 'Branchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR', Human mutation, vol. 29, no. 4, pp. 537-544. https://doi.org/10.1002/humu.20691
Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CWRJ, Marres HAM et al. Branchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Human mutation. 2008 Apr 1;29(4):537-544. https://doi.org/10.1002/humu.20691
Orten, Dana J. ; Fischer, Stephanie M. ; Sorensen, Jessica L. ; Radhakrishna, Uppala ; Cremers, Cor W.R.J. ; Marres, Henri A.M. ; Van Camp, Guy ; Welch, Katherine O. ; Smith, Richard J.H. ; Kimberling, William J. / Branchio-oto-renal syndrome (BOR) : Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. In: Human mutation. 2008 ; Vol. 29, No. 4. pp. 537-544.
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